ENHPATHY

Mutations within coding genes have traditionally been considered the major genetic cause of human disease. However, it is becoming increasingly clear that the genetic, structural and/or epigenetic disruption of enhancers and enhancer landscapes represent major etiological factors in numerous human diseases (i.e. enhanceropathies). Enhancers are regulatory DNA sequences that enhance gene transcription by binding to specific proteins called transcription factors. Enhanceropathies range from rare congenital disorders to common diseases associated with ageing (e.g. cancer, diabetes). Although changes in enhancer activity are predicted to have broad pathological and therapeutic implications, we currently have a limited mechanistic understanding of human enhanceropathies.  

Thus, the ENHPATHY project aims to provide early-stage researchers with a multidisciplinary training in which cutting-edge genomic and genetic engineering approaches are combined with in vitro and in vivo disease models. Moreover, private partnerships within the frame of ENHPATHY will enable the translation of its molecular findings into new diagnostic and therapeutic strategies.